Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region-Reference-Cited by-同舟云学术

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Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region

Published:2007 Issue:2 Volume:28 Page:204-205
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Botzenhart Elke M.,Bartalini Gabriella,Blair Edward,Brady Angela F.,Elmslie Frances,Chong Karen L.,Christy Katie,Torres-Martinez Wilfredo,Danesino Cesare,Deardorff Matthew A.,Fryns Jean-Pierre,Marlin Sandrine,Garcia-Minaur Sixto,Hellenbroich Yorck,Hay Beverly N.,Penttinen Maila,Shashi Vandana,Terhal Paulien,Van Maldergem Lionel,Whiteford Margo L.,Zackai Elaine,Kohlhase Jürgen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 48 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Actin cytoskeletal regulation of ciliogenesis in development and disease;Developmental Dynamics;2024-07-03

2. A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome;Italian Journal of Pediatrics;2024-06-24

3. Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing;Kidney International Reports;2024-06

4. A novel heterozygous variant of the SALL1 gene with atypical Townes‐Brocks syndrome phenotypes in Chinese family;Nephrology;2024-04-07

5. Anesthetic management for emergency cesarean section in a patient with Townes-Brocks syndrome;International Journal of Obstetric Anesthesia;2024-02

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